Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520960 | SCV000621195 | pathogenic | not provided | 2017-10-02 | criteria provided, single submitter | clinical testing | The Q63X variant in the DYRK1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q63X variant is not observed in large population cohorts (Lek et al., 2016). |
3billion | RCV002250650 | SCV002521791 | pathogenic | DYRK1A-related intellectual disability syndrome | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with DYRK1A- related disorder (ClinVar ID: VCV000452388). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |